Outcome Assessment in Rare Diseases: Is JCA Breaking the Silos or Perpetuating the Chaos?

ISSUE: With the Joint Clinical Assessment (JCA) set to include orphan drugs from 2028, rare disease therapies will soon face a new evidence evaluation landscape. This poses particular challenges for rare diseases, where limited data and symptom heterogeneity make it difficult to select and measure outcomes that truly reflect patient experience. A lack of alignment among regulators, HTA bodies, and patient organisations risks creating further barriers to access. With differing priorities and evidence requirements, developers must plan separate outcome strategies, creating inefficiencies and potentially delaying patient access to new therapies. These challenges are especially acute for smaller biotech and non-profit developers with limited capacity to respond quickly to multiple requirements across member states. This session will debate whether harmonising outcome assessment strategies are feasible or appropriate for rare diseases across decision-makers with fundamentally different goals, and if mechanisms like parallel scientific advice or JCA guidance can realistically deliver better alignment. OVERVIEW: Laura Sawyer will introduce the topic and key issues. Milad Karimi will argue for better alignment to reduce inefficiencies and share challenges sponsors face in creating integrated plans for patient-experience data across stakeholders (10 minutes). Steffen Thirstrup will argue that full alignment may be unrealistic given differing remits, drawing on EMA and joint advice experience to explore where collaboration and convergence is possible (10 minutes). Olivier Chassany will support harmonisation and challenge inconsistencies of outcomes requirements (e.g. preference for generic vs disease-specific tools, global scores vs important subscales, and rigid endpoint hierarchies) across European HTA bodies, including within JCA (10 minutes). The final 20 minutes will be dedicated to panel discussion and invite audience input on improving outcomes alignment and anticipating downstream challenges (e.g. national HTA use and reimbursement). This session will benefit stakeholders involved in defining or assessing outcomes that support access decisions in rare diseases.